Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: SPTLC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011516440.1:p.Phe40Leu	CA5121677 XM_011518138.2:c.120C>G CA373795530 XM_011518138.2:c.120C>A CA373795543 XM_011518138.2:c.118T>C